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  Robert Resta: DIAG (5 messages)  

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To: Multiple recipients of list HUM-MOLGEN <HUM-MOLGEN@NIC.SURFNET.NL>
Subject: DIAG (5 messages)
From: Robert Resta <bc928@scn.org>
Date: Fri, 29 Nov 1996 15:18:26 -0800

The following messages have been posted to the DIAG section of
HUM-MOLGEN. Please reply directly to the authors of each message rather
than to HUM-MOLGEN.

These messages will also be posted to our website at

Robert Resta
Message 1)

From: "nothwang, hans gerd" <nothwang@ruf.uni-freiburg.de>

Looking for patients with Senior-Loken-syndrom:

I am working on the positional cloning of a gene for the Senior-Loken-Syndrome,
which is characterized by familial juvenile nephronophtisis (also called medullary cystic disease)
and retinitis pigmentosa. We still need some more families for a successful linkage analysis,
best with two or more affected members, but single patient families
would also be greatly appreciated and any material or information on
families is welcome.

Please contact: Hans Gerd Nothwang
                University Children's hospital Freiburg
                Mathildenstr. 1
                79106 Freiburg (germany)
                email: nothwang@ruf.uni-freiburg.de
                FAX: +49 -761-270-4481
Message 2)

From: GORIN@vision.eei.upmc.edu
Subject: 13q deletions and Retinoblastoma

This week I saw a 10 day-old child with a 13q deletion (includes the RB
locus). Parents are reportedly normal. Eye exam demonstrated no lesions
in either eye. How often should the infant have dilated eye exams to
screen for retinoblastoma? Opinions would be very helpful. Thanks.
Michael B. Gorin, M.D. Ph.D.
Associate Professor
Departments of Ophthalmology and Human Genetics
University of Pittsburgh Sch. of Medicine and Grad. Sch. of Public Health

Mail address: Dept. of Ophthalmol. - 8th floor,
The Eye & Ear Institute Building
203 Lothrop Street, Pittsburgh, PA 15213
Office: (412) 647-2211   FAX: (412) 647-5880

Message 3)
From: Chris Friedrich <cfriedri@mail.med.upenn.edu>
Subject: homozygous familial hypercholesterolemia patients

        The Institue of Human Gene Therapy at the University of
Pennsylvania, under the direction of Dr. James Wilson, is recruiting
additional patients for evaluation for gene therapy trials for homozygous
familial hypercholesterolemia.  Transportation is available to Philadephia
(USA), and patients will be admitted to the General Clinical Research
Center unit at the Hospital of the University of Pennsylvania or the
Children's Hospital of Philadelphia.  This protocol has been approved by
our IRB, and patients are assured of anonymity in any publication or
presentation which may result from this work.

        For further information contact:

Chris Friedrich, M.D., Ph.D.
Assistant Professor of Medicine
Division of Medical Genetics
Maloney 6.40
3400 Spruce Street
Philadelhia, PA 19104-4283

(215) 349-8617                  cfriedri@mail.med.upenn.edu

Message 4)

From: "Pascal KAHLEM" <kahlemp@EXT.JUSSIEU.FR>
Subject:      Associations

We are working on genetic neurodegenerative diseases such as DRPLA, SBMA,
SCA 1, 2, 3, 7, and Huntington Chorea in France. We are looking for associations of patients for thoses diseases in the world. We already have found one in
France that is "Association Huntington-France", but it is very difficult to
search for those abroad.
We would be pleased to be informed about any other organisation.
Please feel free to contact : P. KAHLEM: kahlemp@ext.jussieu.fr


P. Kahlem
Message 5)

From: "Angela Scheuerle, M.D." <ascheuer@ped1.med.uth.tmc.edu>
Subject:      Have patients.  Need researcher.

Good Morning,

1)  Is anyone doing prenatal testing for FGFR2 mutations?  I have a family
with a first child with Pfeiffer who may be interested.  I know that other
gene mutations have been found in children with Pfeiffer, but, based upon
observation that Pfeiffer children who are more 'Apert-like' have their
mutations in FGFR2, I believe that this is the correct gene for this child.
Neither parent is affected, so their recurrence risk is very low, but they
have asked the question.  Along that line, though, has anyone ever hear of
gonadal mosaicism for FGFR mutations?

2) I had a patient with alpha thallasemia, ambiguous genitalia and other
anomalies.  I am interested in evaluation of his helicase gene.  Is anyone
interested?  The child has died, but we have cultured fibroblasts.

Angela E. Scheuerle, M.D.
Assistant Professor
Division of Medical Genetics
Department of Pediatrics
UT Health Science Center - Houston
6431 Fannin, MSB 3.144
Houston TX  77030

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